Canonical Allele Identifier: CA3890615

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1261609
• ClinVar RCV Id: RCV001674187
• dbSNP Id: rs4706549
• ExAC: 6:74354368 T / A
• gnomAD v2: 6-74354368-T-A
• gnomAD v3: 6-73644645-T-A
• gnomAD v4: 6-73644645-T-A
• MyVariant Identifiers: chr6:g.74354368T>A (hg19) ; chr6:g.73644645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644645T>A , CM000668.2:g.73644645T>A	GRCh38
NC_000006.11:g.74354368T>A , CM000668.1:g.74354368T>A	GRCh37
NC_000006.10:g.74411089T>A	NCBI36
NG_008272.1:g.14370A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.95-42A>T MANE Select	ENSP00000348019.5:n.95-42A>T
ENST00000355773.5:c.95-42A>T	ENSP00000348019.5:n.95-42A>T
NM_012434.4:c.95-42A>T	NP_036566.1:n.95-42A>T
XM_005248710.2:c.44-42A>T	XP_005248767.1:n.44-42A>T
XM_005248711.1:c.-104-42A>T	XP_005248768.1:n.-104-42A>T
XM_011535750.1:c.95-42A>T	XP_011534052.1:n.95-42A>T
XM_011535751.1:c.95-42A>T	XP_011534053.1:n.95-42A>T
NM_012434.5:c.95-42A>T MANE Select	NP_036566.1:n.95-42A>T
NM_001382629.1:c.61-2721A>T	NP_001369558.1:n.61-2721A>T
NM_001382630.1:c.95-42A>T	NP_001369559.1:n.95-42A>T
NM_001382631.1:c.116-42A>T	NP_001369560.1:n.116-42A>T
NM_001382632.1:c.95-42A>T	NP_001369561.1:n.95-42A>T
NM_001382633.1:c.95-42A>T	NP_001369562.1:n.95-42A>T
NM_001382634.1:c.95-42A>T	NP_001369563.1:n.95-42A>T
NM_001382635.1:c.95-42A>T	NP_001369564.1:n.95-42A>T
NM_001382636.1:c.61-2721A>T	NP_001369565.1:n.61-2721A>T